Variant report

Variant	rs59612871
Chromosome Location	chr9:73736531-73736532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:73736522-73737130	H1-neurons	neurons:	n/a	n/a
2	SIN3A	chr9:73735299-73737192	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:73735960-73736672	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr9:73736026-73736700	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr9:73735481-73736634	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr9:73736184-73736675	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr9:73735427-73736611	H1-hESC	embryonic stem cell:	n/a	chr9:73735759-73735777
8	TAF1	chr9:73735487-73736705	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr9:73736046-73737024	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr9:73735918-73736675	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr9:73735976-73736576	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr9:73735333-73736761	H1-hESC	embryonic stem cell:	n/a	chr9:73735922-73735931
13	POLR2A	chr9:73736196-73736625	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr9:73735942-73736578	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr9:73736007-73736805	H1-hESC	embryonic stem cell:	n/a	chr9:73736728-73736739
16	TEAD4	chr9:73736096-73736549	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr9:73735929-73736840	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr9:73736513-73736698	H1-hESC	embryonic stem cell:	n/a	n/a
19	GTF2F1	chr9:73736051-73736665	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr9:73735998-73736810	H1-hESC	embryonic stem cell:	n/a	chr9:73736727-73736737
21	TEAD4	chr9:73735912-73736678	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr9:73735908-73736630	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF7	chr9:73736186-73736765	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr9:73736024-73736698	H1-hESC	embryonic stem cell:	n/a	n/a
25	MXI1	chr9:73736031-73736880	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr9:73736115-73736707	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr9:73734623-73736929	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr9:73736189-73737039	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr9:73736114-73736656	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
TRPM3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10512011	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12003125	0.93[AFR][1000 genomes]
rs12003135	0.82[AFR][1000 genomes]
rs12005835	0.92[AFR][1000 genomes]
rs17056169	0.89[ASN][1000 genomes]
rs17056184	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17056185	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17056215	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17056295	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4338175	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56287878	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60222070	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61156901	0.93[AFR][1000 genomes]
rs73480139	0.88[AFR][1000 genomes]
rs73480154	0.88[AFR][1000 genomes]
rs73480167	0.92[AFR][1000 genomes]
rs73647946	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73647947	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7859140	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035505	chr9:73709852-73934353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73732800-73737800	Active TSS	Fetal Brain Female	brain
2	chr9:73733800-73737000	Active TSS	Fetal Brain Male	brain
3	chr9:73734400-73737200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:73734600-73736800	Active TSS	Brain Angular Gyrus	brain
5	chr9:73734600-73737200	Active TSS	Brain Anterior Caudate	brain
6	chr9:73734600-73737600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:73734800-73736800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr9:73734800-73736800	Active TSS	Brain Substantia Nigra	brain
9	chr9:73734800-73737800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:73735000-73737000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:73735000-73737200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr9:73735000-73737400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr9:73735200-73737000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:73735200-73737200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:73735200-73737200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:73735400-73737200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:73735400-73738000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:73735600-73736600	Bivalent Enhancer	Fetal Heart	heart
19	chr9:73735600-73736800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr9:73735600-73737000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr9:73735600-73737200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:73735600-73737200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr9:73735600-73737200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr9:73736000-73736600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:73736000-73736600	Active TSS	Brain Cingulate Gyrus	brain
26	chr9:73736000-73736600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr9:73736000-73736800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:73736000-73736800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr9:73736000-73736800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr9:73736000-73736800	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr9:73736000-73736800	Enhancers	Spleen	Spleen
32	chr9:73736000-73737000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr9:73736000-73737000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
34	chr9:73736200-73736600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:73736200-73736600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:73736200-73736800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:73736200-73736800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:73736200-73736800	Flanking Active TSS	Liver	Liver
39	chr9:73736200-73736800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr9:73736200-73736800	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr9:73736200-73736800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr9:73736200-73737000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:73736400-73736600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
44	chr9:73736400-73736600	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr9:73736400-73736600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr9:73736400-73736600	Bivalent Enhancer	Left Ventricle	heart
47	chr9:73736400-73736600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr9:73736400-73736600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr9:73736400-73736800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:73736400-73736800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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